日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.

通过全外显子组测序在一个患有异染性脑白质营养不良的近亲家庭中发现了一种新的纯合PSAP突变：病例报告

期刊:Journal of International Medical Research
影响因子:1.5
doi:10.1177/03000605241301877
Li Xueyi, Kuang Xiaoni, Huang Guangwen, Liu Zhenyu, Yan Shuyuan
PSA
神经科学
发表日期：2024
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A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome

一名患有维德曼-施泰纳综合征的患者存在ADAMTS8基因的新发突变

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-023-00654-0
Wang, Sifeng; Yan, Shuyuan; Xiao, Jingjun; Chen, Ying; Chen, Anji; Deng, Aimin; Wang, Tuanmei; He, Jun; Peng, Xiangwen
ADA
发表日期：2023
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Detailed Speciation of Semi-Volatile and Intermediate-Volatility Organic Compounds (S/IVOCs) in Marine Fuel Oils Using GC × GC-MS

利用GC×GC-MS对船用燃料油中半挥发性和中挥发性有机化合物（S/IVOCs）进行详细物种分析

期刊:International Journal of Environmental Research and Public Health
影响因子:
doi:10.3390/ijerph20032508
Tang, Rongzhi; Song, Kai; Gong, Yuanzheng; Sheng, Dezun; Zhang, Yuan; Li, Ang; Yan, Shuyuan; Yan, Shichao; Zhang, Jingshun; Tan, Yu; Guo, Song
多发性硬化症
发表日期：2023
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Underdevelopment of gut microbiota in failure to thrive infants of up to 12 months of age

12个月以下生长发育迟缓婴儿肠道菌群发育不良

期刊:Frontiers in Cellular and Infection Microbiology
影响因子:4.8
doi:10.3389/fcimb.2022.1049201
Zhang, Mei; Miao, Dan; Ma, Qi; Chen, Tao; Wang, Tuanmei; Yan, Shuyuan; Zhu, Wendan; Zhou, Fan; He, Jun; Kuang, Xiaoni
微生物学
肠道菌群
发育与干细胞
发表日期：2022
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The clinical spectrum of a nonsense mutation in KAT6A: a case report

KAT6A基因无义突变的临床表现：病例报告

期刊:Journal of International Medical Research
影响因子:1.5
doi:10.1177/03000605221140304
Wang, Dongbo; He, Jun; Li, Xueyi; Yan, Shuyuan; Pan, Linglin; Wang, Tuanmei; Zhou, Liangrong; Liu, Jiyang; Peng, Xiangwen
发表日期：2022
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A novel UBE2A splice site variant causing intellectual disability type Nascimento

一种导致 Nascimento 型智力障碍的新型 UBE2A 剪接位点变异

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.5990
Yan, Shuyuan; Wang, Yanling; Chen, Ying; Yuan, Hongxia; Kuang, Xiaoni; Hou, Da; Li, Xueyi; Pan, Linglin; Huang, Guangwen; He, Jun; Wang, Tuanmei; Peng, Xiangwen
E2A
发表日期：2022
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Xiang Study: an association of breastmilk composition with maternal body mass index and infant growth during the first 3 month of life

项氏研究：母乳成分与母亲体重指数及婴儿出生后前3个月生长发育的关系

期刊:Nutrition Research and Practice
影响因子:1.5
doi:10.4162/nrp.2021.15.3.367
Peng, Xuyi; Li, Jie; Yan, Shuyuan; Chen, Juchun; Lane, Jonathan; Malard, Patrice; Liu, Feitong
发育与干细胞
发表日期：2021
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